Incidental Mutation 'IGL03093:Lingo1'
ID |
418471 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lingo1
|
Ensembl Gene |
ENSMUSG00000049556 |
Gene Name |
leucine rich repeat and Ig domain containing 1 |
Synonyms |
UNQ201, 4930471K13Rik, Lrrn6a, LINGO-1, LERN1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
IGL03093
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
56525759-56703752 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56526748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 614
(I614V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053568]
[ENSMUST00000114247]
[ENSMUST00000114256]
[ENSMUST00000210032]
|
AlphaFold |
Q9D1T0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053568
AA Change: I614V
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000059050 Gene: ENSMUSG00000049556 AA Change: I614V
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
LRRNT
|
35 |
69 |
1.6e-3 |
SMART |
LRR
|
88 |
111 |
6.22e0 |
SMART |
LRR_TYP
|
112 |
135 |
5.81e-2 |
SMART |
LRR
|
136 |
159 |
6.57e-1 |
SMART |
LRR
|
160 |
183 |
3.02e0 |
SMART |
LRR
|
184 |
207 |
1.51e0 |
SMART |
LRR
|
208 |
231 |
1.81e2 |
SMART |
LRR
|
280 |
303 |
8.26e1 |
SMART |
LRR
|
304 |
327 |
9.24e1 |
SMART |
LRR
|
328 |
351 |
1.43e-1 |
SMART |
LRRCT
|
363 |
416 |
4.15e-2 |
SMART |
IGc2
|
431 |
498 |
1.58e-10 |
SMART |
transmembrane domain
|
554 |
576 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114247
AA Change: I614V
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109885 Gene: ENSMUSG00000049556 AA Change: I614V
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
LRRNT
|
35 |
69 |
1.6e-3 |
SMART |
LRR
|
88 |
111 |
6.22e0 |
SMART |
LRR_TYP
|
112 |
135 |
5.81e-2 |
SMART |
LRR
|
136 |
159 |
6.57e-1 |
SMART |
LRR
|
160 |
183 |
3.02e0 |
SMART |
LRR
|
184 |
207 |
1.51e0 |
SMART |
LRR
|
208 |
231 |
1.81e2 |
SMART |
LRR
|
280 |
303 |
8.26e1 |
SMART |
LRR
|
304 |
327 |
9.24e1 |
SMART |
LRR
|
328 |
351 |
1.43e-1 |
SMART |
LRRCT
|
363 |
416 |
4.15e-2 |
SMART |
IGc2
|
431 |
498 |
1.58e-10 |
SMART |
transmembrane domain
|
554 |
576 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114256
AA Change: I620V
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109894 Gene: ENSMUSG00000049556 AA Change: I620V
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
LRRNT
|
41 |
75 |
1.6e-3 |
SMART |
LRR
|
94 |
117 |
6.22e0 |
SMART |
LRR_TYP
|
118 |
141 |
5.81e-2 |
SMART |
LRR
|
142 |
165 |
6.57e-1 |
SMART |
LRR
|
166 |
189 |
3.02e0 |
SMART |
LRR
|
190 |
213 |
1.51e0 |
SMART |
LRR
|
214 |
237 |
1.81e2 |
SMART |
LRR
|
286 |
309 |
8.26e1 |
SMART |
LRR
|
310 |
333 |
9.24e1 |
SMART |
LRR
|
334 |
357 |
1.43e-1 |
SMART |
LRRCT
|
369 |
422 |
4.15e-2 |
SMART |
IGc2
|
437 |
504 |
1.58e-10 |
SMART |
transmembrane domain
|
560 |
582 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181927
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210032
AA Change: I614V
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset CNS myelination. [provided by MGI curators]
|
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
A |
G |
19: 53,219,638 (GRCm39) |
D121G |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,043,802 (GRCm39) |
D1380G |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,453,262 (GRCm39) |
Y487C |
probably damaging |
Het |
Coro2a |
A |
G |
4: 46,544,158 (GRCm39) |
S278P |
possibly damaging |
Het |
Creb3l3 |
A |
G |
10: 80,927,047 (GRCm39) |
S128P |
probably benign |
Het |
Dab2 |
A |
G |
15: 6,465,892 (GRCm39) |
R697G |
probably damaging |
Het |
Erap1 |
T |
C |
13: 74,823,399 (GRCm39) |
F811S |
probably benign |
Het |
Fam170b |
A |
G |
14: 32,557,482 (GRCm39) |
S106G |
probably damaging |
Het |
Galk2 |
T |
C |
2: 125,771,563 (GRCm39) |
L196P |
probably damaging |
Het |
Gan |
T |
C |
8: 117,910,314 (GRCm39) |
M81T |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,068,511 (GRCm39) |
T197A |
probably benign |
Het |
Hemgn |
A |
T |
4: 46,396,504 (GRCm39) |
M244K |
probably benign |
Het |
Htr6 |
A |
G |
4: 138,789,080 (GRCm39) |
F325S |
probably damaging |
Het |
Igkv9-120 |
A |
G |
6: 68,027,398 (GRCm39) |
D104G |
probably damaging |
Het |
Itpr2 |
A |
C |
6: 146,281,008 (GRCm39) |
I216S |
probably damaging |
Het |
Mep1b |
C |
T |
18: 21,226,710 (GRCm39) |
T524M |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,480,702 (GRCm39) |
|
probably benign |
Het |
Mylk |
G |
A |
16: 34,732,562 (GRCm39) |
R614H |
possibly damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,410 (GRCm39) |
T205A |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,007,446 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
G |
A |
4: 123,180,502 (GRCm39) |
D75N |
probably damaging |
Het |
Paics |
T |
A |
5: 77,109,355 (GRCm39) |
|
probably null |
Het |
Prl |
T |
A |
13: 27,248,870 (GRCm39) |
I172N |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,152,056 (GRCm39) |
S168P |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,001,865 (GRCm39) |
V225A |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,110,430 (GRCm39) |
I86V |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,309,407 (GRCm39) |
Y306C |
probably damaging |
Het |
Soat2 |
T |
A |
15: 102,066,078 (GRCm39) |
L250Q |
probably damaging |
Het |
Tex38 |
A |
G |
4: 115,637,762 (GRCm39) |
S14P |
probably damaging |
Het |
Tm2d1 |
A |
T |
4: 98,268,921 (GRCm39) |
C59S |
possibly damaging |
Het |
Tmco1 |
A |
G |
1: 167,143,848 (GRCm39) |
D82G |
probably damaging |
Het |
Tmem245 |
G |
A |
4: 56,886,019 (GRCm39) |
R866W |
probably damaging |
Het |
Tnip1 |
G |
T |
11: 54,831,652 (GRCm39) |
Y7* |
probably null |
Het |
Trp73 |
A |
G |
4: 154,189,330 (GRCm39) |
M48T |
probably benign |
Het |
Tslp |
T |
C |
18: 32,948,612 (GRCm39) |
|
probably benign |
Het |
Usp47 |
T |
C |
7: 111,688,827 (GRCm39) |
F745L |
probably damaging |
Het |
Vmn2r53 |
T |
A |
7: 12,334,791 (GRCm39) |
T290S |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,718,472 (GRCm39) |
D30G |
probably benign |
Het |
Zkscan2 |
T |
C |
7: 123,094,073 (GRCm39) |
Y247C |
probably benign |
Het |
|
Other mutations in Lingo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01648:Lingo1
|
APN |
9 |
56,527,111 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02335:Lingo1
|
APN |
9 |
56,527,365 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Lingo1
|
UTSW |
9 |
56,527,704 (GRCm39) |
missense |
probably benign |
0.02 |
R1840:Lingo1
|
UTSW |
9 |
56,527,842 (GRCm39) |
missense |
probably benign |
0.38 |
R1932:Lingo1
|
UTSW |
9 |
56,526,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2475:Lingo1
|
UTSW |
9 |
56,526,910 (GRCm39) |
missense |
probably benign |
0.03 |
R3439:Lingo1
|
UTSW |
9 |
56,528,017 (GRCm39) |
missense |
probably benign |
0.23 |
R3870:Lingo1
|
UTSW |
9 |
56,527,009 (GRCm39) |
missense |
probably benign |
0.00 |
R4241:Lingo1
|
UTSW |
9 |
56,527,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R4701:Lingo1
|
UTSW |
9 |
56,527,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R4757:Lingo1
|
UTSW |
9 |
56,527,209 (GRCm39) |
missense |
probably benign |
0.14 |
R5451:Lingo1
|
UTSW |
9 |
56,527,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Lingo1
|
UTSW |
9 |
56,526,934 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6254:Lingo1
|
UTSW |
9 |
56,527,371 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6836:Lingo1
|
UTSW |
9 |
56,527,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R6849:Lingo1
|
UTSW |
9 |
56,526,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R6935:Lingo1
|
UTSW |
9 |
56,527,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Lingo1
|
UTSW |
9 |
56,527,467 (GRCm39) |
missense |
probably benign |
0.35 |
R7116:Lingo1
|
UTSW |
9 |
56,527,911 (GRCm39) |
missense |
probably benign |
0.17 |
R7196:Lingo1
|
UTSW |
9 |
56,527,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7470:Lingo1
|
UTSW |
9 |
56,527,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R7471:Lingo1
|
UTSW |
9 |
56,528,167 (GRCm39) |
nonsense |
probably null |
|
R7804:Lingo1
|
UTSW |
9 |
56,526,798 (GRCm39) |
missense |
probably benign |
0.00 |
R8179:Lingo1
|
UTSW |
9 |
56,527,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R8534:Lingo1
|
UTSW |
9 |
56,528,353 (GRCm39) |
missense |
probably benign |
0.00 |
R8684:Lingo1
|
UTSW |
9 |
56,528,106 (GRCm39) |
missense |
probably damaging |
0.98 |
R9430:Lingo1
|
UTSW |
9 |
56,527,512 (GRCm39) |
missense |
probably benign |
0.09 |
R9794:Lingo1
|
UTSW |
9 |
56,528,592 (GRCm39) |
missense |
probably benign |
|
X0023:Lingo1
|
UTSW |
9 |
56,527,312 (GRCm39) |
nonsense |
probably null |
|
Z1177:Lingo1
|
UTSW |
9 |
56,528,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Posted On |
2016-08-02 |